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Topic Review
Homocystinuria
Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly.
  • 1.1K
  • 23 Dec 2020
Topic Review
Gout
Gout is a type of arthritis, which is a group of related disorders caused by episodes of abnormal inflammation in the joints. People with gout have high levels of a substance called urate in the blood (hyperuricemia).
  • 1.1K
  • 23 Dec 2020
Topic Review
Chromosome 5
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 5, one copy inherited from each parent, form one of the pairs.
  • 1.1K
  • 24 Dec 2020
Topic Review
CDKL5 Gene
cyclin dependent kinase like 5
  • 1.1K
  • 24 Dec 2020
Topic Review
Matrisomal Gene Panel for Head and Neck Cancer
Squamous cell carcinoma of the head and neck (SCCHN) is common worldwide and related to several risk factors including smoking, alcohol consumption, poor dentition and human papillomavirus (HPV) infection. Different etiological factors may influence the tumor microenvironment and play a role in dictating response to therapeutics. Here, we sought to investigate whether an early-stage SCCHN-specific prognostic matrisome-derived gene signature could be identified for HPV-negative SCCHN patients (n = 168), by applying a bioinformatics pipeline to the publicly available SCCHN-TCGA dataset. We identified six matrisome-derived genes with high association with prognostic outcomes in SCCHN. A six-gene risk score, the SCCHN TMI (SCCHN-tumor matrisome index: composed of MASP1, EGFL6, SFRP5, SPP1, MMP8 and P4HA1) was constructed and used to stratify patients into risk groups. Using machine learning-based deconvolution methods, we found that the risk groups were characterized by a differing abundance of infiltrating immune cells. 
  • 1.1K
  • 23 Nov 2021
Topic Review
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in short stature (dwarfism), skeletal abnormalities, and problems with vision. This condition affects the bones of the spine (spondylo-) and two regions (epiphyses and metaphyses) near the ends of long bones in the arms and legs. The Strudwick type was named after the first reported patient with the disorder.  
  • 1.1K
  • 23 Dec 2020
Topic Review
FG Syndrome
FG syndrome is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first family diagnosed with the disorder.
  • 1.1K
  • 25 Dec 2020
Topic Review
MEFV Gene
MEFV, pyrin innate immunity regulator
  • 1.1K
  • 22 Dec 2020
Topic Review
Mind-Body Intervention and Diabetes
Mind–body intervention (MBI) refers to interventions like meditation, yoga, and qigong, which deal with both physical and mental well-being. MBI not only induces psychological changes, such as alleviation of depression, anxiety, and stress, but also physiological changes like parasympathetic activation, lower cortisol secretion, reduced inflammation, and aging rate delay, which are all risk factors for T2D. Notably, MBI has been reported to reduce blood glucose in patients with T2D.
  • 1.1K
  • 11 Mar 2021
Topic Review
The Major Types of Non-Coding RNAs
Non-coding RNAs (ncRNAs) encompass all RNAs that are not translated into proteins. They are classified by features such as length and structure, and include microRNAs (miRs), long non-coding RNAs (lncRNAs), and circular RNAs (circRNAs).
  • 1.1K
  • 01 Feb 2023
Topic Review
KBG Syndrome
KBG syndrome is a rare disorder that affects several body systems. "KBG" represents the surname initials of the first families diagnosed with the disorder.
  • 1.1K
  • 23 Dec 2020
Topic Review
SLC5A5 Gene
solute carrier family 5 member 5
  • 1.1K
  • 24 Dec 2020
Topic Review
APOE Gene
Apolipoprotein E
  • 1.1K
  • 04 Jan 2021
Topic Review
POIKTMP
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (abbreviated POIKTMP), is a disorder that affects many parts of the body, particularly the skin, muscles, lungs, and pancreas. Signs and symptoms vary among affected individuals.
  • 1.1K
  • 04 Jan 2021
Topic Review
Cold-induced Sweating Syndrome
Cold-induced sweating syndrome is characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body.
  • 1.1K
  • 24 Dec 2020
Topic Review
FLG Gene
Filaggrin
  • 1.1K
  • 25 Dec 2020
Topic Review
X-linked Hyper IgM Syndrome
X-linked hyper IgM syndrome is a condition that affects the immune system and occurs almost exclusively in males.
  • 1.1K
  • 24 Dec 2020
Topic Review
TH Gene
Tyrosine hydroxylase (TH): The TH gene provides instructions for making the enzyme tyrosine hydroxylase, which is important for normal functioning of the nervous system. 
  • 1.1K
  • 25 Dec 2020
Topic Review
Gene Mutations in Systemic Mastocytosis
Systemic mastocytosis (SM) is a rare hematologic disease characterized by an abnormal expansion and accumulation of pathological mast cells (MCs) in skin and/or other several extracutaneous tissues such as bone marrow (BM) and the gastro-intestinal tract. Currently, SM is divided into five different diagnostic subtypes according to the World Health Organization (WHO) 2016 classification. These include indolent SM (ISM), smouldering SM (SSM), aggressive SM (ASM), SM with associated haematological neoplasms (SM-AHN) and MC leukaemia (MCL). Additionally, the inclusion of two new subtypes of SM into the classification of the disease is currently under consideration: a variant of ISM known as BM mastocytosis (BMM), which is characterized by a low BM MC burden in the absence of skin lesions, and a very rare (<5%) variant of mastocytosis, which shows tumour mast cells (MCs) with a well-differentiated morphology together with a CD25− CD2− immunophenotype and unique clinical, biological and molecular features, termed well-differentiated SM (WDSM). From a prognostic point of view, all these diagnostic subtypes of SM can be grouped into (i) non-advanced forms of SM (Non-AdvSM), which include BMM, ISM and SSM, typically characterized by a more stable and indolent course of the disease and a life expectancy similar or close to that of a sex- and age-matched population; and (ii) advanced SM (AdvSM) including ASM, SM-AHN and MCL, which typically display an adverse prognosis associated with a significantly shortened life expectancy requiring cytoreductive therapy. Despite this, some ISM patients (<5%) can eventually evolve to SSM and AdvSM. Conversely, a small proportion of AdvSM patients may also show a relatively stable disease course over years or even decades.
  • 1.1K
  • 27 May 2022
Topic Review
CRISPR/Cas9-Based Genome Editing on Abiotic Stress Tolerance
Plants are subjected to various environmental stresses that negatively impact growth and development and limit crop productivity. Therefore, in order to meet the requirements of the growing world population and food security, it is essential to develop cultivars resistant to abiotic stresses. In recent years, with the availability of genetic databases and the advancement in genome editing techniques, it is feasible to edit target genes with precision and create new opportunities for crop improvement that conventional breeding methods could not achieve. The genome-editing method using CRISPR-Cas systems is very powerful and confers exceptional versatility to develop improved cultivars at abiotic stresses. These efficient gene editing techniques facilitate the cultivation of superior-performing genotypes in challenging environmental conditions without compromising yield.
  • 1.1K
  • 17 Nov 2023
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